mutation of ARNT2 results in absence of detectable levels of ARNT2 transcript and protein from patient fibroblasts compared with controls, consistent with nonsense-mediated decay of the mutant transcript and loss of ARNT2 function.

Arnt2 contributes to control of lateral positioning of longitudinal hypothalamic-spinal axons by negative regulation of robo3a (zeige ROBO3 Antikörper).1 expression, which in turn attenuates the repulsive activity of Robo2 (zeige ROBO2 Antikörper).

Zebrafish gene (zfARNT2) is not essential for mediating TCDD developmental toxicity in zebrafish.

The only effect in arnt2(-/-) larvae that occurred before 120 hours postfertilization (hpf) was a decrease in expression of sim1, an Arnt2 dimerization partner, in the hypothalamus and ventral thalamus at 72 hpf.

ARNT2 Antigen-Profil

Protein Überblick

This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting addition roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively.